A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997779



Internal ID16944045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:73232574..73235573hg38UCSC Ensembl
Outerchr5:72528401..72531400hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950090
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997779
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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